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Research panel - Severe Paediatric Disorders

Gene: ACTL6B

Green List (high evidence)
ACTL6B (actin like 6B)
EnsemblGeneIds (GRCh38): ENSG00000077080
EnsemblGeneIds (GRCh37): ENSG00000077080
OMIM: 612458, Gene2Phenotype
ACTL6B is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: ACTL6B; Recommended initial gene rating: Green List (high evidence); Phenotypes: Epileptic encephalopathy, early infantile, 76, 618468 (3) | Intellectual developmental disorder with severe speech and ambulation defects, 618470 (3); Mode of inheritance: ND | Autosomal dominant
Created: 20 Feb 2020, 5:15 p.m. | Last Modified: 20 Feb 2020, 5:15 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:15 p.m.
Last Modified: 20 Feb 2020, 5:15 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Intellectual developmental disorder with severe speech and ambulation defects, 618470
  • Epileptic encephalopathy, early infantile, 76, 618468
OMIM
612458
Clinvar variants
Variants in ACTL6B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ACTL6B was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ACTL6B were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Intellectual developmental disorder with severe speech and ambulation defects, 618470; Epileptic encephalopathy, early infantile, 76, 618468 for gene: ACTL6B

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to ACTL6B.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ACTL6B. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ACTL6B was added gene: ACTL6B was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: ACTL6B was set to